Objective: Schizophrenia-spectrum disorders and posttraumatic stress disorder (PTSD) share common clinical manifestations, genetic vulnerability, and environmental risk factors. We aimed to conduct a systematic review and meta-analysis of the comorbid prevalence of PTSD among schizophrenia-spectrum disorders. Methods: We performed a meta-analysis to identify possible contributing factors to the heterogeneity among these studies. We systematically searched electronic databases with no restrictions on language of articles. Results: We extracted 24 samples (18 for current prevalence and 6 for lifetime prevalence) from 22 studies and used a random effects model to estimate the pooled prevalence of PTSD among schizophrenia-spectrum disorders. The current and life prevalence of comorbid PTSD was 10.6% (95% confidence interval [CI]=6.3%–17.3%) and 13.0% (95% CI=5.3%–28.6%), respectively. Studies assessing psychotic experiences/involuntary admission reported the highest prevalence of comorbid PTSD (57.1%, 95% CI=43.6%–59.7%), whereas those assessing various anxiety disorders reported the lowest prevalence (1.1%, 95% CI=1.0%–5.5%). Heterogeneities of the subgroup analysis by similar objectives were largely homogeneous (I2=7.1–34.1). In the qualitative assessment, only two studies (9.1%) were evaluated as having a low risk of bias. Conclusion Our results showed that a careful approach with particular attention to assessing PTSD is essential to reliably estimate the prevalence of PTSD comorbid with schizophrenia-spectrum disorders. The reason for the wide discrepancy in the prevalence of comorbid PTSD among the four groups of studies should be addressed in future research.

Angiofibroma and shagreen patches are common cutaneous manifestations of tuberous sclerosis complex (TSC) and have significant physical and psychological repercussions for patients. Several treatments have been proposed to improve lesions; however, clear treatment guidelines have not yet been presented. Thus, we introduce a case of angiofibroma and shagreen patch improved by application of pulsed dye laser, ablative fractional CO2 laser, and topical rapamycin, and present clinical implications for the treatment of angiofibroma and shagreen patch in TSC.

The face is one of the most important parts of the body. Untreated facial fractures can result in deformities that can be harmful to patients. Three-dimensional (3D) printing is a rapidly evolving technology that has recently been widely applied in the medical field as it can potentially improve patient treatment. Although 3D printing technology is mostly used for craniofacial surgery, some studies have proved that it can be used to treat nasoethmoid orbital fractures. In this study, a patient-customized plate was constructed using a 3D printer and applied in a simulated surgery for the treatment of nasoethmoid orbital fracture.

Background: Umbilical skin lesions are rare but diverse and are rarely diagnosed by biopsy. Objective: This study aimed to analyze the clinical and histopathological features of umbilical skin lesions that require histopathological investigation and to aid in the diagnosis of diseases in patients with umbilical skin lesions. Methods: We performed a retrospective analysis of the patients who visited Korea University Medical center for umbilical skin lesions between January 2008 and December 2019. Age, sex, clinical features, etiologies, and histopathological features were obtained from the patients’ medical records. Results: In total, 41 cases of histologically confirmed umbilical lesions were observed. There were 29 female patients (70.73%). The lesions included hypertrophic scars (11/41), epidermal cysts (7/41), verruca (6/41), seborrheic keratosis (4/41), nevus (4/41), steatocystoma (2/41), and one case each of endometriosis, hidrocystoma, neurofibroma, soft fibroma, foreign body granuloma, tick bite, and heterotopic gastric mucosa. Conclusion The most common umbilical skin lesions were hypertrophic scars, probably because of the increasing number of laparoscopic surgeries. Compared to the known trends in other countries, fewer biopsies were performed on the umbilical lesions for the diagnosis of metastatic cancer in this study, which might have been due to the low incidence of advanced gastric cancer and the early detection of cancer through endoscopy and computed tomography scan in Korea. Clinically, changes in treatment modality and diagnostic development can alter the frequency of the previously well-recognized diseases; therefore, medical personnel should be aware of the changing incidence of related diseases.

Paradoxical reactions in patients treated with tumor necrosis factor-alpha inhibitors (TNFis) have an estimated prevalence of 1.5% to 5%. Such reactions usually present as psoriasiform eruptions on the trunk and extremities along with palmar and flexural involvement. When affecting the scalp, new-onset psoriasis induced by TNFi can result in non-scarring or scarring alopecia. Although the paradoxical reaction was first reported in 2003, this TNFi-associated psoriatic alopecia (TiAPA) has been recently reported with increasing frequency. This condition is characteristically reversible and requires clinical and histopathological identification from other diseases for proper treatment. The cessation of TNFi therapy may not be mandatory, and decision to continue TNFi therapy depends on the severity of TiAPA and the riskbenefit ratio of treatment modification on the underlying disease. Herein, we report a case of TiAPA in a patient with inflammatory bowel disease whose alopecia improved following suspension of TNFi. We also describe the clinical and histopathological diagnostic criteria based on review of the literature.

Background: Umbilical skin lesions are rare but diverse and are rarely diagnosed by biopsy. Objective: This study aimed to analyze the clinical and histopathological features of umbilical skin lesions that require histopathological investigation and to aid in the diagnosis of diseases in patients with umbilical skin lesions. Methods: We performed a retrospective analysis of the patients who visited Korea University Medical center for umbilical skin lesions between January 2008 and December 2019. Age, sex, clinical features, etiologies, and histopathological features were obtained from the patients’ medical records. Results: In total, 41 cases of histologically confirmed umbilical lesions were observed. There were 29 female patients (70.73%). The lesions included hypertrophic scars (11/41), epidermal cysts (7/41), verruca (6/41), seborrheic keratosis (4/41), nevus (4/41), steatocystoma (2/41), and one case each of endometriosis, hidrocystoma, neurofibroma, soft fibroma, foreign body granuloma, tick bite, and heterotopic gastric mucosa. Conclusion The most common umbilical skin lesions were hypertrophic scars, probably because of the increasing number of laparoscopic surgeries. Compared to the known trends in other countries, fewer biopsies were performed on the umbilical lesions for the diagnosis of metastatic cancer in this study, which might have been due to the low incidence of advanced gastric cancer and the early detection of cancer through endoscopy and computed tomography scan in Korea. Clinically, changes in treatment modality and diagnostic development can alter the frequency of the previously well-recognized diseases; therefore, medical personnel should be aware of the changing incidence of related diseases.

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery – up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-yearold male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia.Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.
Biopsy ; Cholestasis ; Copper ; Hair ; Hepatomegaly ; Infant ; Infant, Newborn ; Liver ; Menkes Kinky Hair Syndrome ; Muscle Hypotonia ; Necrosis ; Seizures ; Skin ; Spasms, Infantile

Field efficacy of enterotoxigenic Escherichia coli-specific phage (PhiCJ19) as a feed additive was evaluated in weaning piglets. Fifty-four piglets at 3~4 weeks old were allocated in three different groups and two of them were fed with bacteriophage at different concentrations (10(6) PFU/kg feed and 10(8) PFU/kg feed, respectively) for 30 days. Body weight and feed intake were measured at 10 days interval and body condition and fecal score were inspected every day. Based on the measurement, feed conversion rate (FCR) and average daily gain (ADG) of each group during 30 days were analyzed. The analysis suggests that the bacteriophage may help the improvement of FCR and ADG at 10(8) PFU/kg of bacteriophage feeding group in 30 days. A result from analysis of fecal score indicates that the bacteriophage also may help to relieve the intermittent diarrhea in post-weaning stage. Those results suggest that bacteriophage might help the growth of piglets in post-weaning stage.
Bacteriophages ; Body Weight ; Diarrhea ; Enterotoxigenic Escherichia coli ; Escherichia ; Weaning